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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-56164372-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56164372&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56164372,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330288.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3592G>T",
"hgvs_p": "p.Ala1198Ser",
"transcript": "NM_001330288.2",
"protein_id": "NP_001317217.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1245,
"cds_start": 3592,
"cds_end": null,
"cds_length": 3738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000550164.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330288.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3592G>T",
"hgvs_p": "p.Ala1198Ser",
"transcript": "ENST00000550164.6",
"protein_id": "ENSP00000449396.1",
"transcript_support_level": 5,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1245,
"cds_start": 3592,
"cds_end": null,
"cds_length": 3738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330288.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550164.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3499G>T",
"hgvs_p": "p.Ala1167Ser",
"transcript": "ENST00000267064.8",
"protein_id": "ENSP00000267064.4",
"transcript_support_level": 1,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3499,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267064.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3317-4G>T",
"hgvs_p": null,
"transcript": "ENST00000394023.7",
"protein_id": "ENSP00000377591.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": null,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394023.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3316+276G>T",
"hgvs_p": null,
"transcript": "ENST00000347471.8",
"protein_id": "ENSP00000302919.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1130,
"cds_start": null,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347471.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3748G>T",
"hgvs_p": "p.Ala1250Ser",
"transcript": "ENST00000939454.1",
"protein_id": "ENSP00000609513.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3748,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939454.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3727G>T",
"hgvs_p": "p.Ala1243Ser",
"transcript": "ENST00000866392.1",
"protein_id": "ENSP00000536451.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3727,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866392.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3625G>T",
"hgvs_p": "p.Ala1209Ser",
"transcript": "ENST00000866397.1",
"protein_id": "ENSP00000536456.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3625,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866397.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3589G>T",
"hgvs_p": "p.Ala1197Ser",
"transcript": "ENST00000866393.1",
"protein_id": "ENSP00000536452.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3589,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866393.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3499G>T",
"hgvs_p": "p.Ala1167Ser",
"transcript": "NM_003075.5",
"protein_id": "NP_003066.2",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3499,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003075.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3427G>T",
"hgvs_p": "p.Ala1143Ser",
"transcript": "ENST00000866391.1",
"protein_id": "ENSP00000536450.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3427,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866391.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3379G>T",
"hgvs_p": "p.Ala1127Ser",
"transcript": "ENST00000866394.1",
"protein_id": "ENSP00000536453.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1174,
"cds_start": 3379,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866394.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3589G>T",
"hgvs_p": "p.Ala1197Ser",
"transcript": "XM_005269102.3",
"protein_id": "XP_005269159.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3589,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269102.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3496G>T",
"hgvs_p": "p.Ala1166Ser",
"transcript": "XM_005269103.3",
"protein_id": "XP_005269160.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1213,
"cds_start": 3496,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269103.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3442+276G>T",
"hgvs_p": null,
"transcript": "ENST00000866396.1",
"protein_id": "ENSP00000536455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1172,
"cds_start": null,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866396.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3317-4G>T",
"hgvs_p": null,
"transcript": "NM_001130420.3",
"protein_id": "NP_001123892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": null,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130420.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3349+276G>T",
"hgvs_p": null,
"transcript": "ENST00000866398.1",
"protein_id": "ENSP00000536457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1141,
"cds_start": null,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866398.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3346+276G>T",
"hgvs_p": null,
"transcript": "ENST00000941977.1",
"protein_id": "ENSP00000612036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1140,
"cds_start": null,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941977.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3316+276G>T",
"hgvs_p": null,
"transcript": "NM_139067.4",
"protein_id": "NP_620706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1130,
"cds_start": null,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139067.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3232+276G>T",
"hgvs_p": null,
"transcript": "ENST00000941982.1",
"protein_id": "ENSP00000612041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1102,
"cds_start": null,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941982.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3220+276G>T",
"hgvs_p": null,
"transcript": "ENST00000866390.1",
"protein_id": "ENSP00000536449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": null,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SMARCC2",
"gene_hgnc_id": 11105,
"hgvs_c": "c.3133+276G>T",
"hgvs_p": null,
"transcript": "ENST00000941979.1",
"protein_id": "ENSP00000612038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1069,
"cds_start": null,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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}
],
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}